Montaño AM - Search Results

1

Mucopolysaccharidosis IVA: a novel splice acceptor site mutation in intron 4 of the N-acetylgalactosamine-6-sulfate sulfatase gene in an Afghanistan girl with classical Morquio disease.

Fukuda S, Yamada N, Tomatsu S, Sukegawa K, Montaño AM, Hopwood JJ, Muller V, Orii T, Kondo N. Fukuda S, et al. Among authors: montano am. Jpn J Hum Genet. 1997 Jun;42(2):317-22. doi: 10.1007/BF02766953. Jpn J Hum Genet. 1997. PMID: 9290256

2

Development of MPS IVA mouse (Galnstm(hC79S.mC76S)slu) tolerant to human N-acetylgalactosamine-6-sulfate sulfatase.

Tomatsu S, Gutierrez M, Nishioka T, Yamada M, Yamada M, Tosaka Y, Grubb JH, Montaño AM, Vieira MB, Trandafirescu GG, Peña OM, Yamaguchi S, Orii KO, Orii T, Noguchi A, Laybauer L. Tomatsu S, et al. Among authors: montano am. Hum Mol Genet. 2005 Nov 15;14(22):3321-35. doi: 10.1093/hmg/ddi364. Epub 2005 Oct 11. Hum Mol Genet. 2005. PMID: 16219627

3

Mutation and polymorphism spectrum of the GALNS gene in mucopolysaccharidosis IVA (Morquio A).

Tomatsu S, Montaño AM, Nishioka T, Gutierrez MA, Peña OM, Tranda Firescu GG, Lopez P, Yamaguchi S, Noguchi A, Orii T. Tomatsu S, et al. Among authors: montano am. Hum Mutat. 2005 Dec;26(6):500-12. doi: 10.1002/humu.20257. Hum Mutat. 2005. PMID: 16287098

4

Enzyme replacement therapy in a murine model of Morquio A syndrome.

Tomatsu S, Montaño AM, Ohashi A, Gutierrez MA, Oikawa H, Oguma T, Dung VC, Nishioka T, Orii T, Sly WS. Tomatsu S, et al. Among authors: montano am. Hum Mol Genet. 2008 Mar 15;17(6):815-24. doi: 10.1093/hmg/ddm353. Epub 2007 Dec 3. Hum Mol Genet. 2008. PMID: 18056156

5

Mucopolysaccharidosis IVA: characterization of a common mutation found in Finnish patients with attenuated phenotype.

Montaño AM, Kaitila I, Sukegawa K, Tomatsu S, Kato Z, Nakamura H, Fukuda S, Orii T, Kondo N. Montaño AM, et al. Hum Genet. 2003 Jul;113(2):162-9. doi: 10.1007/s00439-003-0959-8. Epub 2003 Apr 30. Hum Genet. 2003. PMID: 12721840

6

Mouse model of N-acetylgalactosamine-6-sulfate sulfatase deficiency (Galns-/-) produced by targeted disruption of the gene defective in Morquio A disease.

Tomatsu S, Orii KO, Vogler C, Nakayama J, Levy B, Grubb JH, Gutierrez MA, Shim S, Yamaguchi S, Nishioka T, Montano AM, Noguchi A, Orii T, Kondo N, Sly WS. Tomatsu S, et al. Among authors: montano am. Hum Mol Genet. 2003 Dec 15;12(24):3349-58. doi: 10.1093/hmg/ddg366. Epub 2003 Oct 28. Hum Mol Genet. 2003. PMID: 14583446

7

Mucopolysaccharidosis IVA (Morquio A): identification of novel common mutations in the N-acetylgalactosamine-6-sulfate sulfatase (GALNS) gene in Italian patients.

Tomatsu S, Filocamo M, Orii KO, Sly WS, Gutierrez MA, Nishioka T, Serrato OP, Di Natale P, Montaño AM, Yamaguchi S, Kondo N, Orii T, Noguchi A. Tomatsu S, et al. Among authors: montano am. Hum Mutat. 2004 Aug;24(2):187-8. doi: 10.1002/humu.9265. Hum Mutat. 2004. PMID: 15241807

8

Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate.

Tomatsu S, Dieter T, Schwartz IV, Sarmient P, Giugliani R, Barrera LA, Guelbert N, Kremer R, Repetto GM, Gutierrez MA, Nishioka T, Serrato OP, Montaño AM, Yamaguchi S, Noguchi A. Tomatsu S, et al. Among authors: montano am. J Hum Genet. 2004;49(9):490-494. doi: 10.1007/s10038-004-0178-8. Epub 2004 Aug 11. J Hum Genet. 2004. PMID: 15309681

9

The mouse N-acetylgalactosamine-6-sulfate sulfatase (Galns) gene: cDNA isolation, genomic characterization, chromosomal assignment and analysis of the 5'-flanking region.

Montaño AM, Yamagishi A, Tomatsu S, Fukuda S, Copeland NG, Orii KE, Isogai K, Yamada N, Kato ZI, Jenkins NA, Gilbert DJ, Sukegawa K, Orii T, Kondo N. Montaño AM, et al. Biochim Biophys Acta. 2000 Mar 17;1500(3):323-34. doi: 10.1016/s0925-4439(99)00119-2. Biochim Biophys Acta. 2000. PMID: 10699374 Free article.

10

Biochemical and structural analysis of missense mutations in N-acetylgalactosamine-6-sulfate sulfatase causing mucopolysaccharidosis IVA phenotypes.

Sukegawa K, Nakamura H, Kato Z, Tomatsu S, Montaño AM, Fukao T, Toietta G, Tortora P, Orii T, Kondo N. Sukegawa K, et al. Among authors: montano am. Hum Mol Genet. 2000 May 22;9(9):1283-90. doi: 10.1093/hmg/9.9.1283. Hum Mol Genet. 2000. PMID: 10814710

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